Complete karyotype discrepancy between placental and fetal cells in a case of ring chromosome 18 |
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| Authors: | Wolfgang Fischer Anette Dermitzel Rüdiger Osmers Michael Pruggmayer |
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| Institution: | 1. Labor für Humangenetik und Pränatale Diagnostik, Dr Pruggmayer, Hermann-Ehlers-Strasse 9, D-31224 Peine, Germany;2. Frauenklinik des Städtischen Krankenhauses, Weinberg 1, D-31134 Hildesheim, Germany |
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| Abstract: | A case of complete karyotype discrepancy between cultured chorionic villi and amniotic in addition to fetal cells is reported. Ring chromosome 18 and monosomy 18 mosaicism was detected after amniocentesis. The pregnancy was terminated in the 23rd gestational week. Cytogenetic analysis of cultured umbilical cord tissue after termination confirmed the finding of ring chromosome 18/monosomy 18 mosaicism. In cultured umbilical blood lymphocytes monosomic cells 45,-18 were not detected and the karyotype was 46,XY,r(18). In contrast, short-term and long-term cultured chorionic villi showed a normal male karyotype of 46,XY. Ultrasonographic examination revealed amniotic band syndrome and scoliosis in the caudal region of the spine. Copyright © 2001 John Wiley & Sons, Ltd. |
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| Keywords: | prenatal diagnosis chorionic villus sampling false-negative finding ring chromosome 18 |
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